GTF3A - general transcription factor IIIA Gene

Homo sapiens

Also known as AP2; TFIIIA

Gene ID: 2971 | Gene type: protein coding

About GTF3A

Cytogenetic location: 13q12.2 Genomic coordinates (GRCh38): 13:27,424,619-27,435,823 (from NCBI)

This gene has 8 transcripts (splice variants), 275 orthologues and 6 paralogues. Ubiquitous expression in fat (RPKM 54.8), heart (RPKM 50.8) and 25 other tissues.

Summary

The product of this gene is a zinc finger protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008]

GTF3A Products(1)

mRNA	Protein	Name
NM_002097.3	NP_002088.2	transcription factor IIIA

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables 5S rRNA binding	IDA IDA: Inferred from direct assay	24120868	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ribosomal large subunit biogenesis	IMP IMP: Inferred from mutant phenotype	24120868	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GTF3A Protein Structure

zf-H2C2_2

zf-C2H2

zf-C2H2_4

zf-C2H2

0
100
200
300
365 a.a.

Protein Preferred Names

Protein Names

transcription factor IIIA

Related Diseases

Diseases

Alias

Stocco Dos Santos Type X-Linked Intellectual Disability

X-Linked Intellectual Disability, Stocco Dos Santos Type	Stocco Dos Santos Syndrome
Sdsx	Stocco Dos Santos X-Linked Mental Retardation Syndrome

Thrombasthenia

Non-Syndromic X-Linked Intellectual Disability 89

Mrx89

Open-Angle Glaucoma

Glaucoma Simplex	Pigmentary Glaucoma
Wide-Angle Glaucoma	Glaucoma, Open-Angle
Open Angle Glaucoma	Glaucoma Open-Angle
Chronic Simple Glaucoma	Coag - [Chronic Open-Angle Glaucoma]
Csg - [Chronic Simple Glaucoma]	Poag - [Primary Open-Angle Glaucoma]
Oag - [Open-Angle Glaucoma]	Chronic Glaucoma
Chronic Open Angle Glaucoma	Simple Glaucoma
Chronic Noncongestive Glaucoma	Ltg - [Low Tension Glaucoma]
Noncongestive Glaucoma	Nonobstructive Glaucoma
Normal Pressure Glaucoma	Primary Low Tension Glaucoma
Low-Tension Glaucoma	Residual Stage Low Tension Glaucoma
Open Cleft Glaucoma

Mental Retardation, X-Linked 92

MRX92	Intellectual Developmental Disorder, X-Linked 92
Non-Syndromic X-Linked Intellectual Disability 92	X-Linked Mental Retardation 92
Mental Retardation, X-Linked, Type 92

Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome	DGS
Hypoplasia Of Thymus And Parathyroids	Third And Fourth Pharyngeal Pouch Syndrome
22q11.2 Deletion Syndrome	Digeorge Sequence
Digeorge'S Syndrome	Pharyngeal Pouch Syndrome
Di-George Syndrome	Shprintzen Syndrome

Cerebellofaciodental Syndrome

Cerebellar-Facial-Dental Syndrome

CFDS

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05905	GTF3A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GTF3A	VGNC	VGNC:73315
Canis familiaris	GTF3A	VGNC	VGNC:58304
Mus musculus	GTF3A	MGD	MGI:1913846
Bos taurus	GTF3A	VGNC	VGNC:29701
Rattus norvegicus	GTF3A	RGD	RGD:619746
Felis catus	GTF3A	VGNC	VGNC:102220

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